Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups
Author
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Lardone, María Cecilia
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Ortega, Victoria
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Ortiz, Eliana
Author
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Flórez, M.
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Piottante, Antonio
Author
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Ebensperger, Mauricio
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Flores, Sandra
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Pezo, Patricio
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Orellana, Michael
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Moraga, Mauricio
Author
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Castro, Andrea
Admission date
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2021-01-26T21:53:32Z
Available date
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2021-01-26T21:53:32Z
Publication date
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2020
Cita de ítem
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Journal of Assisted Reproduction and Genetics (2020) 37: 12
es_ES
Identifier
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10.1007/s10815-020-01957-6
Identifier
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https://repositorio.uchile.cl/handle/2250/178346
Abstract
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Purpose To investigate the association of partial-AZFc deletions in Chilean men with primary spermatogenic failure and their testicular histopathological phenotypes, analyzing the contribution ofDAZdosage,CDY1copies, and Y-chromosome haplogroups.
Subjects and methods We studied 479 Chilean men: 334 infertile patients with histological examination (233 cases with spermatogenic defects and 101 normal spermatogenesis, obstructive controls, OC), and 145 normozoospermic controls (NC). AZFc subdeletions were detected by single-tagged sequences and single nucleotide variants analysis.DAZ-copy number was quantified by real-time qPCR. Y-chromosome haplogroups (Y-hg) were hierarchically genotyped through 16 biallelic-markers.
Results The prevalence of AZFc-partial deletions was increased in cases (6%) compared with NC (1.4%) (P = 0.035). There was no difference between 143 Sertoli-cell only syndrome, 35 maturation arrest, or 35 mix atrophy patients and controls. However, gr/gr deletions were more frequent in 16 subjects with hypospermatogenesis compared with NC (P = 0.003) and OC (P = 0.013). Y-hg R was the most prevalent (similar to 50%), but decreased among gr/gr deletions (21%, P = 0.03). The prevalence of Y-hg M increased in cases versus controls, both in total and non-deleted men (3.9 and 3.7% versus 0.4%, P = 0.009 and P = 0.016, respectively). Among gr/gr deletions, Y-hg H increased compared with non-deleted men (14.3% versus 0.4%, P = 0.0047).
Conclusion Partial-AZFc deletions in a Chilean admixed population are associated with secretory azo/oligozoospermia and might have a role in the development of hypospermatogenesis. Low represented haplogroups, Y-hg M and Y-hg H, show an association with the occurrence of spermatogenic failure and gr/gr deletions respectively; however, additional studies are required.
es_ES
Patrocinador
dc.description.sponsorship
Comision Nacional de Investigacion Cientifica y Tecnologica (CONICYT)
CONICYT FONDECYT
1030984
1120176
University of Chile
560228